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Biomedical subjects

C Elmer

Publications and source records attributed to C Elmer.

14 recordsLinked to original sources
PubMed1993

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhäuser syndrome (megalocornea-mental retardation syndrome). Here we report 4 new cases of megalocornea and mental retardation. Those unrelated patients have a consistent pattern of anomalies with possible recessive inheritance which clearly differs from that of the original patients of Neuhäuser et al. [1975]. We discuss the heterogeneity of the syndromes with megalocornea and mental retardation. Based on these cases and on a review of the literature, we suggest a provisional clinically oriented classification in 5 subtypes: (1) a recessive form type Neuhäuser (with iris hypoplasia and minor anomalies), (2) a recessive form type Frank-Temtamy (with camptodactyly, scoliosis and growth retardation), (3) a recessive type 3, including our 4 personal cases (with normal irides, severe hypotonia, relative or absolute macrocephaly and minor anomalies), (4) a possible Frydman type (with normal irides, megalencephaly and obesity), and (5) provisionally unclassifiable cases.

Abnormalities, Multiple↗
PubMed1993

Schinzel-Giedion syndrome.

We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis seems unreliable. Facial features change dramatically with age and diagnosis is likely to be easily missed beyond the neonatal period. No metabolic defect has been detected. Inheritance is probably autosomal recessive.

Abnormalities, Multiple↗
PubMed1993

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

Two unrelated children with congenital central hypoventilation syndrome (CCHS-Ondine syndrome) and long segment Hirschsprung disease are reported. Patient 1, a girl, is still alive at 3 years. Patient 2, a boy, died of viral pneumonia at 5.5 years. Continuous mechanical ventilation was necessary for months and those children could never be weaned from the respirator during sleep. Seventeen cases of this complex neurocristopathy are reviewed. Only six children (including our cases) survived beyond 2 years of age. Hypotonia, delay in developmental milestones or epilepsy were frequently observed. Ventilator dependency does not improve with time. Multifocal congenital neuroblastoma occurred in two children. Aetiology is unknown.

Abnormalities, Multiple↗
PubMed1990

Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

A small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant improvement in cardiac function. Episodes of hypoglycaemia recurred despite continuous glucose infusions. Total serum carnitine from cord blood was 1.65 nmoles/ml and was undetectable on day 20. Oral DL-carnitine supplements resulted in normoglycaemia, dramatic improvement in cardiac function and restoration of serum carnitine levels to normal values. The infant was thereafter maintained on carnitine therapy. Follow-up over 1 year showed moderate growth retardation and normal developmental milestones. In order to account for such a severe neonatal presentation of carnitine deficiency, a combination of defective pre- and postnatal carnitine supply with an inborn error of carnitine handling is considered. The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure.

Cardiomyopathies↗
PubMed1990

[Association of the CHARGE syndrome and imperforation of the lacrymal ducts].

Clinical description of a 12-year-old girl with a number of congenital abnormalities including retarded growth and an asymmetric facies. All the clinical features observed are compatible with the CHARGE association. Ocular anomalies are important bilateral colobomata associated with nystagmus and strabismus. Three among four of the lacrymal canaliculi are missing. This anomaly has not yet been described in the CHARGE syndrome. The discussion refers to all the clinical observations especially the ophthalmological features.

Abnormalities, Multiple↗
PubMed1990

[The value of prenatal chromosomal diagnosis in cases of fetal abnormalities: results obtained in 468 pathological pregnancies].

The authors report the results of 468 foetal karyotypes performed on amniotic fluid or foetal blood samples after ultrasound discovery of foetal anomalies. A total of 46 chromosomal aberrations (10%) were detected. The rates of anomalies vary considerably according to the alarm sign; very high (greater than 30%) in cases of multiple malformations, foetal hydrops or foetal death, low (less than or equal to 2%) in cases of poly- or oligohydramnios and foetal growth retardation without detectable malformation. In addition to these chromosomal diagnoses, further investigations enabled in 9 cases the diagnosis of genetic autosomal recessive disorders. Our results which are comparable with those reported in the literature, demonstrate the importance of prenatal diagnosis in cases of pathological pregnancies, with regard to obstetrical and perinatal management as well as to genetic counseling.

Chromosome Aberrations↗
PubMed1989

[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?].

The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.

Abnormalities, Multiple↗